ClinVar Miner

List of variants reported as uncertain significance for Carney-Stratakis syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_003000.2(SDHB):c.455C>T (p.Ser152Phe) rs200414835
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser) rs747349777
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.